Publications by authors named "Angela Grochowsky"

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Emergency Management of Inherited Metabolic Disorders in Acute Surgical and Trauma Settings.
Yutaka Furuta, Rory J Tinker, Angela R Grochowsky, John A Phillips

Am Surg· November 2025

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The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case Report.
Yutaka Furuta, Rory J Tinker, Angela R Grochowsky, John A Phillips

Reports (MDPI)· October 2025

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Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing.
Yutaka Furuta, Neena S Agrawal, Angela R Grochowsky, Rory J Tinker, Bret C Mobley

Neurohospitalist· June 2025

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New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication.
Yutaka Furuta, Erica T Nelson, Rory J Tinker, Angela R Grochowsky

Reports (MDPI)· April 2025

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Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Aiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P Alves, Angela Grochowsky

Hum Genet· March 2024

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Collaborative efforts to improve genetic testing in the neonatal intensive care unit.
Bryce A Schuler, Mackenzie Mosera, L Dupree Hatch, Angela Grochowsky, Ferrin Wheeler

J Perinatol· December 2023

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The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Adenrele M Gleason, Andrea D'Souza, Emory Ryan, Angela R Grochowsky, Camille R Carter

Am J Med Genet A· July 2023

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Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in and Associated Phenotypes.
Cedrik Tekendo-Ngongang, Angela Grochowsky, Benjamin D Solomon, Sho T Yano

Genes (Basel)· October 2021

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Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Maxwell L Summerlin, Debra S Regier, Jamie L Fraser, Kimberly A Chapman, Dariush Kafashzadeh, Angela Grochowsky

Am J Med Genet A· February 2021

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Clinical characteristics of individual organ system disease in non-motile ciliopathies.
Angela Grochowsky, Meral Gunay-Aygun

Transl Sci Rare Dis· July 2019

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Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment.
Christoph J Griessenauer, Philip Veith, Martin M Mortazavi, Carrie Stewart, Angela Grochowsky

Childs Nerv Syst· April 2013

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